rs1057517840, TP53

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 17 7674904 frameshift variant CT/- delins 0.700 1.000 2 1996 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.925 0.200 17 7674904 frameshift variant CT/- delins 0.700 1.000 1 1996 1996
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.925 0.200 17 7674904 frameshift variant CT/- delins 0.700 0